Craniosynostosis is an intricate heterogeneous condition
resulting in an abnormal skull shape due to aberrant premature fusion of one or
more sutures of the cranium. Craniosynostosis is caused by a complex
interaction between genetic, epigenetic, and environmental factors. Dysmorphic
head shape can be a presenting complaint of craniosynostosis, which needs to be
investigated in detail for any genetic or syndromic associations. Many genetic
mutations have been associated with craniosynostosis, but the ERF gene mutation
has been found to be very rare. This study has discussed an 8-year-old girl who
presented with a dysmorphic head shape. The patient had a chief complaint of
disproportionate increase in head size involving the upper-middle part of the
skull for the past two years, which was gradual in onset and progressive in
nature. She had crouzoid-like features like proptosis, malar hypoplasia with
copper beaten skull appearance and pansynostosis on CT Head, but genetic
evaluation revealed ERF gene mutation suggestive of craniosynostosis 4. She had
short stature, which was the unique association with it. Thus, a high index of
suspicion should be kept for craniosynostosis 4 when phenotypic features are
suggestive of Crouzon syndrome, as Crouzon syndrome can phenotypically mimic
craniosynostosis with ERF gene mutation. Genetic analysis should be performed
to identify alternative causes of craniosynostosis, with particular attention
to detecting ERF gene mutations. Early diagnosis is required to provide early
management, improving the survival rate and providing a better quality of life.
Furthermore, distinguishing ERF-related craniosynostosis from Crouzon syndrome
is also crucial to inform prognosis, genetic counselling, and individualised
treatment planning.
Author(s) Details
Preeti Arya
Department of Pediatrics, Veer Chandra Singh Garhwali Government Institute
of Medical Sciences and Research, Srinagar, Uttarakhand, India.
Sanket Bhadra
Department of Pediatrics, Veer Chandra Singh Garhwali Government Institute of
Medical Sciences and Research, Srinagar, Uttarakhand, India.
Monica Jassal
Department of Pediatrics, Veer Chandra Singh Garhwali Government Institute
of Medical Sciences and Research, Srinagar, Uttarakhand, India.
Vyas K. Rathaur
Department of Pediatrics, Veer Chandra Singh Garhwali Government Institute
of Medical Sciences and Research, Srinagar, Uttarakhand, India.
Please see the book here :- https://doi.org/10.9734/bpi/aodhr/v10/7143
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